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Satoyoshi syndrome

MedGen UID:
318882
Concept ID:
C1833454
Disease or Syndrome
Synonyms: Komuragaeri Disease; Muscle spasms, intermittent with alopecia, diarrhea and skeletal abnormalities
SNOMED CT: Satoyoshi syndrome (763630007); Komuragaeri disease (763630007)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0010922
OMIM®: 600705
Orphanet: ORPHA3130

Definition

Satoyoshi syndrome is a rare disorder characterized by progressive, painful, intermittent muscle spasms, diarrhea or unusual malabsorption, endocrinopathy with amenorrhea, and secondary skeletal abnormalities. The disorder is also called komuragaeri disease by the Japanese; in Japanese 'komura' means calf and 'gaeri' means 'turnover' or spasm. All cases have apparently been sporadic, even when occurring in large families (Ehlayel and Lacassie, 1995). [from OMIM]

Clinical features

From HPO
Fatigue
MedGen UID:
41971
Concept ID:
C0015672
Sign or Symptom
A subjective feeling of tiredness characterized by a lack of energy and motivation.
Amenorrhea
MedGen UID:
8016
Concept ID:
C0002453
Finding
Absence of menses for an interval of time equivalent to a total of more than (or equal to) 3 previous cycles or 6 months.
Uterine hypoplasia
MedGen UID:
120575
Concept ID:
C0266399
Congenital Abnormality
Underdevelopment of the uterus.
Pes planus
MedGen UID:
42034
Concept ID:
C0016202
Anatomical Abnormality
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Brachydactyly
MedGen UID:
67454
Concept ID:
C0221357
Congenital Abnormality
Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.
Genu valgum
MedGen UID:
154364
Concept ID:
C0576093
Anatomical Abnormality
The legs angle inward, such that the knees are close together and the ankles far apart.
Acroosteolysis
MedGen UID:
183017
Concept ID:
C0917990
Disease or Syndrome
Dissolution or degeneration of bone tissue of the phalanges of the hand.
Short metacarpal
MedGen UID:
323064
Concept ID:
C1837084
Anatomical Abnormality
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Short metatarsal
MedGen UID:
341358
Concept ID:
C1849020
Finding
Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Diarrhea
MedGen UID:
8360
Concept ID:
C0011991
Sign or Symptom
Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.
Malabsorption
MedGen UID:
811453
Concept ID:
C3714745
Finding
Impaired ability to absorb one or more nutrients from the intestine.
Muscle spasm
MedGen UID:
52431
Concept ID:
C0037763
Sign or Symptom
Sudden and involuntary contractions of one or more muscles.
Skeletal muscle hypertrophy
MedGen UID:
853739
Concept ID:
C2265792
Finding
Abnormal increase in muscle size and mass not due to training.
Abnormality of the musculature
MedGen UID:
867380
Concept ID:
C4021745
Anatomical Abnormality
Abnormality originating in one or more muscles, i.e., of the set of muscles of body.
Mildly elevated creatine kinase
MedGen UID:
342469
Concept ID:
C1850309
Finding
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Alopecia universalis
MedGen UID:
120481
Concept ID:
C0263505
Disease or Syndrome
Alopecia areata is a common disorder that causes hair loss. "Alopecia" is a Latin term that means baldness, and "areata" refers to the patchy nature of the hair loss that is typically seen with this condition.\n\nIn most people with alopecia areata, hair falls out in small, round patches, leaving coin-sized areas of bare skin. This patchy hair loss occurs most often on the scalp but can affect other parts of the body as well. Uncommonly, the hair loss involves the entire scalp (in which case the condition is known as alopecia totalis) or the whole body (alopecia universalis). Other rare forms of alopecia areata, which have different patterns of hair loss, have also been reported.\n\nAlopecia areata affects people of all ages, although it most commonly appears in adolescence or early adulthood. Hair loss occurs over a period of weeks. The hair usually grows back after several months, although it may fall out again. In some cases, unpredictable cycles of hair loss followed by regrowth can last for years. In addition to hair loss, some affected individuals have fingernail and toenail abnormalities, such as pits on the surface of the nails.\n\nThe hair loss associated with alopecia areata is not painful or disabling. However, it causes changes in a person's appearance that can profoundly affect quality of life and self-esteem. In some people, the condition can lead to depression, anxiety, and other emotional or psychological issues.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSatoyoshi syndrome

Professional guidelines

PubMed

Solís-García Del Pozo J, de Cabo C, Solera J
Orphanet J Rare Dis 2019 Jun 19;14(1):146. doi: 10.1186/s13023-019-1120-7. PMID: 31217029Free PMC Article

Recent clinical studies

Etiology

Solís-García Del Pozo J, de Cabo C, Solera J
Orphanet J Rare Dis 2019 Jun 19;14(1):146. doi: 10.1186/s13023-019-1120-7. PMID: 31217029Free PMC Article
Rudnicka L, Kwiatkowska M, Rakowska A, Czuwara J, Olszewska M
J Dermatol 2014 Nov;41(11):951-6. Epub 2014 Oct 7 doi: 10.1111/1346-8138.12633. PMID: 25289915

Diagnosis

Saima Y, Tanaka Y, Kakehashi A, Kaburaki T
Medicine (Baltimore) 2023 Mar 17;102(11):e33284. doi: 10.1097/MD.0000000000033284. PMID: 36930111Free PMC Article
Viana Abreu Montanaro V, Solís-García Del Pozo J, Falcão Hora T, León BH, de Cabo C, Solera J
Rheumatology (Oxford) 2023 Jul 5;62(7):2343-2351. doi: 10.1093/rheumatology/kead067. PMID: 36749015
Rudnicka L, Kwiatkowska M, Rakowska A, Czuwara J, Olszewska M
J Dermatol 2014 Nov;41(11):951-6. Epub 2014 Oct 7 doi: 10.1111/1346-8138.12633. PMID: 25289915
Mukhopadhyay D, Ghosh A, Mukhopadhyay M
Indian Pediatr 2011 Sep;48(9):729-31. PMID: 21992906
Wisuthsarewong W, Likitmaskul S, Manonukul J
Pediatr Dermatol 2001 Sep-Oct;18(5):406-10. doi: 10.1046/j.1525-1470.2001.01966.x. PMID: 11737686

Therapy

Viana Abreu Montanaro V, Solís-García Del Pozo J, Falcão Hora T, León BH, de Cabo C, Solera J
Rheumatology (Oxford) 2023 Jul 5;62(7):2343-2351. doi: 10.1093/rheumatology/kead067. PMID: 36749015
Solís-García Del Pozo J, de Cabo C, Solera J
Orphanet J Rare Dis 2019 Jun 19;14(1):146. doi: 10.1186/s13023-019-1120-7. PMID: 31217029Free PMC Article
Mani V, George R
Pediatr Dermatol 2017 Nov;34(6):e296-e298. Epub 2017 Sep 22 doi: 10.1111/pde.13271. PMID: 28940615
Mukhopadhyay D, Ghosh A, Mukhopadhyay M
Indian Pediatr 2011 Sep;48(9):729-31. PMID: 21992906
Ashalatha R, Kishore A, Sarada C, Nair MD
Neurol India 2004 Mar;52(1):94-5. PMID: 15069249

Prognosis

Saima Y, Tanaka Y, Kakehashi A, Kaburaki T
Medicine (Baltimore) 2023 Mar 17;102(11):e33284. doi: 10.1097/MD.0000000000033284. PMID: 36930111Free PMC Article
Solís-García Del Pozo J, de Cabo C, Solera J
Orphanet J Rare Dis 2019 Jun 19;14(1):146. doi: 10.1186/s13023-019-1120-7. PMID: 31217029Free PMC Article
Rudnicka L, Kwiatkowska M, Rakowska A, Czuwara J, Olszewska M
J Dermatol 2014 Nov;41(11):951-6. Epub 2014 Oct 7 doi: 10.1111/1346-8138.12633. PMID: 25289915
Uddin AB, Walters AS, Ali A, Brannan T
Parkinsonism Relat Disord 2002 Jan;8(3):211-3. doi: 10.1016/s1353-8020(00)00080-8. PMID: 12039433
Ikeda K, Satoyoshi E, Kinoshita M, Wakata N, Iwasaki Y
Intern Med 1998 Sep;37(9):784-7. doi: 10.2169/internalmedicine.37.784. PMID: 9804090

Clinical prediction guides

Saima Y, Tanaka Y, Kakehashi A, Kaburaki T
Medicine (Baltimore) 2023 Mar 17;102(11):e33284. doi: 10.1097/MD.0000000000033284. PMID: 36930111Free PMC Article
Viana Abreu Montanaro V, Solís-García Del Pozo J, Falcão Hora T, León BH, de Cabo C, Solera J
Rheumatology (Oxford) 2023 Jul 5;62(7):2343-2351. doi: 10.1093/rheumatology/kead067. PMID: 36749015
Tsugeno Y, Kawachi H, Kirimura S, Hirota Y, Shintaku H, Ito T, Kikuchi A, Ohtsuka K, Akashi T, Kitagawa M
Pathol Int 2021 Feb;71(2):147-154. Epub 2020 Dec 17 doi: 10.1111/pin.13053. PMID: 33333628

Recent systematic reviews

Viana Abreu Montanaro V, Solís-García Del Pozo J, Falcão Hora T, León BH, de Cabo C, Solera J
Rheumatology (Oxford) 2023 Jul 5;62(7):2343-2351. doi: 10.1093/rheumatology/kead067. PMID: 36749015
Solís-García Del Pozo J, de Cabo C, Solera J
Orphanet J Rare Dis 2020 May 19;15(1):115. doi: 10.1186/s13023-020-01395-8. PMID: 32429959Free PMC Article
Solís-García Del Pozo J, de Cabo C, Solera J
Orphanet J Rare Dis 2019 Jun 19;14(1):146. doi: 10.1186/s13023-019-1120-7. PMID: 31217029Free PMC Article

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